Effect of Fetal Movements and Fetal Breathing on Fetal Middle Cerebral Artery Pulsatility Index Measurement

Objective: This study aimed to determine the effect of fetal movements on the MCA pulsatility index (PI) and quantify the fall of MCA PI after initiation of fetal movements and/or breathing, and the time taken to recover from a fall below the 5th percentile. Methods: 16 women with appropriate for gestational age (AGA) fetuses and 16 women with small for gestational age (SGA) fetuses were recruited. MCA PI during “no movement” state was compared with MCA PI values during fetal body movements and breathing movements. Results: MCA PI measurements with body or breathing movements were significantly (p 0.005) lower as compared to that observed without movements. MCA PI started rising immediately after cessation of body movements and/or breathing movements. Conclusions: MCA PI with fetal body or breathing movements is significantly lower as compared to that observed in the quiet state. If MCA PI measurement is below 5th centile, it should be measured again up to 90 seconds after cessation of fetal body and/or breathing movements in order to minimize false positive diagnosis of cerebral sparing effect in SGA as well as AGA fetuses.

Gestation-specific reference intervals for fetal cardiac Doppler indices from 12 to 40 weeks of gestation

We aimed to establish gestation age specific reference intervals for Doppler indices of fetal cardiac function from 12 to 40 weeks of pregnancy. In a cross-sectional observational study of singleton pregnancies, examinations were performed in 221 women evenly distributed across each week of pregnancy. Blood flow through the four cardiac valves was examined with Doppler. For the atrioventricular valves, velocity and duration of early (E) and atrial (A) waves and the interval (a) between E/A complexes was recorded. For the outflow valves, the duration (b), peak and average velocity of flow in systole was measured. Myocardial performance index (MPI) was calculated as (a - b)/b. Outlet valve diameters were measured and cardiac outputs were calculated. Gestation age specific ranges were constructed for all these parameters. We demonstrated that the cardiac output, peak systolic and time-averaged velocity increase with advancing gestation. However the MPI and E/A ratios show little change across gestation. Fetal cardiac physiology can be studied and Doppler indices reliably measured as early as the late first trimester of pregnancy. Establishing gestation age specific ranges for various cardiac indices throughout pregnancy will help the study of development of fetal cardiac function.

Blended Phenotypes From a SERPINA 11 Pathogenic Variant Over Underlying Immune Fetal Hydrops: A Rare Case Report and Literature Review

Fetal hydrops can stem from immune or nonimmune causes.Immune causes often involve red cell alloimmunization,whereas nonimmune causes encompass structural malformations,aneuploidy,infections,lymphatic system disorders,genetic syndromes,and more.In a rare and complex case,we encountered a fetal hydrops presentation characterized by blended phenotypes,indicating both a genetic and an underlying immune etiology.The mother,Rhesus negative,presented with a history of adverse obstetric events.At 21 weeks,the current fetus was diagnosed with hydrops.Maternal blood tests unveiled Rhesus alloimmunization,featuring a positive indirect Coombs test at a 1:512 dilution and the presence of anti-D,anti-C,and anti-E antibodies.Fetal blood sampling revealed an O-positive blood group with a hemoglobin level of 10 gm/dL.Despite administering intrauterine transfusion to the fetus,there was no improvement;instead,the fetal hydrops worsened,accompanied by the emergence of nuchal and axillary masses.Exome sequencing of fetal DNA revealed the fetus was homozygous for a pathogenic variant in the SERPINA11 gene and compound heterozygous for a pathogenic variant in the PIEZO1 gene.Furthermore,the combination of pathogenic variants in SERPINA11 and PIEZO1 genes has not been described in cases of fetal hydrops before.This case posed significant challenges in management due to the concurrent presence of both immune and nonimmune hydrops.We describe some of the diagnostic challenges faced in clinical management of this case.

Fetal therapy for congenital diaphragmatic hernia:past,present and future

Congenital diaphragmatic hernia(CDH)affects 1/2500-5000 infants and is associated with significant neonatal morbidity and mortality related to pulmonary hypoplasia and pulmonary hypertension.Current estimates of perinatal mortality are between 30-40%.With advances in neonatal and surgical management and now improvements in prenatal diagnosis and intervention,further reduction in mortality is anticipated.Data from the international Tracheal Occlusion to Accelerate Lung Growth(TOTAL)trials,have demonstrated the efficacy of fetal endoscopic tracheal occlusion(FETO)in severe left CDH(LCDH).Although promising,this intervention also has potential for significant morbidity related to prematurity and iatrogenic mortality if reversal of tracheal occlusion is unsuccessful.The implementation of FETO must proceed cautiously within LevelⅢfetal therapy centers and with rigorous outcomes monitoring of centers offering this therapy,ensuring that they are experienced in antenatal severity assessment of CDH,FETO insertion and removal and are integrated with expert,standardized neonatal CDH centers with availability of Extracorporeal life support(ECLS).Further research is needed to better understand the impact of prematurity on FETO survivors,the role of FETO in moderate LCDH,Right CDH(RCDH)and non-isolated CDH in carefully selected circumstances as well as the development of alternative,less invasive,fetal therapies that can specifically target both pulmonary hypoplasia and pulmonary hypertension.

妊娠早期不同一性发育双胎的妊娠结局

目的:评估双胎妊娠早期两胎儿不同一性发育的妊娠结局。方法:回顾性研究在216对双胎妊娠中共有19例(不同一组),41例为对照组。用方差分析和Fisher’sexacttest比较两组胎儿生长受限(IUGR)发生率、新生儿不同一性发生率和早产发生率情况。结果:不同一组IUGR发生率、新生儿不同一性发育发生率以及早产发生率分别为57.2%,35.7%,78.6%,显著高于对照组24.4%,7.5%和30%(P值分别为0.03,0.02和0.01),不同一组先天畸形的发病率高于对照组,当双胎不同一性比率(A-B/A)>25%时,有显著性差异(P=0.039)。所有发现的畸形均为易于识别的严重畸形。结论:双胎不同一性发育可发生于妊娠早期。双胎不同一性程度>25%时,胎儿畸形率增高且为易识别的显著畸形。早期不同一性发育双胎的IUGR发生率、新生儿不同一性发生率和早产发生率均增高。

Endometrial Evaluation by Transvaginal Ultrasonography Saline Infusion Sonohysterography, Hysteroscopy versus Endometrial Office Bipsy in Perimenopausal Bleeding: A Comparative Study

Postmenopausal bleeding is a very common and alarming symptom accounting for 5 percent of all gynecological outpatients’ clinic attendances. This cross-section study was conducted in the Department of Obstetrics and Gynecology at University Hospitals and included 176 patients with perimenopausal bleeding who attended a patient clinic during the period from January 2017 to May 2019. All patients were subjected to transvaginal ultrasound, saline sonohysterography and out-patient endometrial sampling using pipelle;all the results were compared to histopathology obtained by hysteroscopic guided biopsy and/or hysterectomy. Result: In comparing the validity of TVS and SHG we found highly significant decrease in malignancy assessment in the TVS method compared to hysteroscopic-guided biopsy. According to the validity of pipelle in detection of malignant lesion, it was found to detect 80 cases out of 88 cases of malignancy with sensitivity 90.9%, specificity 100% and 95.45% accuracy with respect to histopathology by hysteroscopy guided biopsy and/or hysterectomy. Combination tests were done between SHG and pipelle and we found that the validity of combination tests in detecting malignancy improves the sensitivity and specificity in detection of malignancy sensitivity = 100% and specificity = 100% and this was found to be as an effective method in detection of malignancy. Conclusion: When SHG combined to outpatient endometrial sampling “pipelle”, the results were the same as hysteroscopy.

Preeclampsia-What is to blame?The placenta,maternal cardiovascular system or both?

Preeclampsia(PE)is a pregnancy-specific syndrome,complicating 2%-8% of pregnancies.PE is a major cause of maternal mortality throughout the world with 60000 maternal deaths attributed to hypertensive disorders of pregnancy.PE also results in fetal morbidity due to prematurity and fetal growth restriction.The precise aetiology of PE remains an enigma with multiple theories including a combination of environmental,immunological and genetic factors.The conventional and leading hypotheses for the initial insult in PE is inadequate trophoblast invasion which is thought to result in incomplete remodelling of uterine spiral arteries leading to placental ischaemia,hypoxia and thus oxidative stress.The significant heterogeneity observed in pre-eclampsia cannot be solely explained by the placental model alone.Herein we critically evaluate the clinical(risk factors,placental blood flow and biomarkers)and pathological(genetic,molecular,histological)correlates for PE.Furthermore,we discuss the role played by the(dysfunctional)maternal cardiovascular system in the aetiology of PE.We review the evidence that demonstrates a role for both the placenta and the cardiovascular system in early-and late-onset PE and highlight some of the key differences between these two distinct disease entities.

Fulminant ulcerative colitis in a healthy pregnant woman

This case report concerns a 25-year-old patient with6-7 bloody stools/d, abdominal pain, tachycardia,and weight loss occurring during the third trimester of pregnancy. Severe ulcerative colitis complicated by toxic megacolon and gravidic sepsis was diagnosed by clinical evaluation, colonoscopy, and rectal biopsy that were performed safely without risk for the mother or baby. The patient underwent a cesarean section at28+6 wk gestation. The baby was transferred to the neonatal intensive care unit of our hospital and survived without complications. Fulminant colitis was managed conservatively by combined colonoscopic decompression and medical treatment. Although current European guidelines describe toxic megacolon as an indication for emergency surgery for both pregnant and non-pregnant women, thanks to careful monitoring, endoscopic decompression, and intensive medical therapy with nutritional support, we prevented the woman from having to undergo emergency pancolectomy. Our report seems to suggest that conservative management may be a helpful tool in preventing pancolectomy if the patient's condition improves quickly. Otherwise, surgery is mandatory.

Impact of Prophylactic Betamethasone Indication on the Neonatal Outcome in 38-Week Pregnancies Prior to Elective Cesarean Section

Objective: To assess whether the use of prenatal betamethasone in pregnancies with elective Caesarean section (C-section) at 38 weeks has a similar risk of adverse neonatal respiratory outcomes than elective C-section at 39 weeks. Methods: Retrospective cohort study of pregnant patients with singleton pregnancies and elective C-section at term in a one-year period. Cases were C-section at 38 weeks of gestation with a complete course of betamethasone started 48-hours before. As a control group, pregnancies with a C-section at 39 weeks without betamethasone were included. Results: During the study period, 186 patients were included. Of these, 91 were delivered at 38 weeks and 95 at 39 weeks. There were no significant differences in maternal age and parity. Moreover, there were no significant differences in respiratory complications (respiratory distress syndrome [RDS] = 0% vs 1.1%;p = 1.0, transitory tachypnea [TT] = 0% vs 0%) and admission to Neonatal Intensive Care Unit (NICU) (8.8% vs 6.3%;p = 0.7) between deliveries at 38 weeks and 39 weeks, respectively. Conclusion: Prophylactic use of betamethasone in early term pregnancies who undergo an elective C-section at 38 weeks is associated with similar adverse neonatal respiratory outcomes than patients with C-section at 39 weeks without corticosteroids.

高危人群妊娠早期静脉导管、鼻骨检查和唐氏综合征的关系

OBJECTIVE: Assessing the role of fetal ductus venosus and nasal bones evalua ti on in first-trimester screening for Down syndrome. METHODS: This was a prospect ive cohort study in a tertiary referral fetal medicine unit involving 628 consec utive fetuses undergoing chorionic villus sampling. The indication for chorionic villus sampling was an increased risk (more than 1:300) for trisomy 21 based on maternal age and nuchal translucency screening in 313 cases (54.7%), increased maternal age in 195 (34.1%), and other in 64 (11.2%). Immediately before chor ionic villus sampling, an ultrasound examination was performed. The pattern of b lood flow in the ductus venosus and the presence or absence of the nasal bones w as noted. RESULTS: A satisfactory examination of both ductus venosus and nasal b ones was possible in 572 fetuses. Of these, 497 (86.9%) had a normal karyotype, and 47 (8.2%) were affected with Down syndrome. The likelihood ratio for triso my 21 was 7.05 (95%confidence interval 4.27-11.64) in the case of abnormal duc tus venosus flow and 6.42 (95%confidence interval 3.86-10.67) in the case of a bsent nasal bones. CONCLUSION: In addition to increased fetal nuchal translucenc y, Down syndrome is significantly associated with first-trimester abnormal flow velocity patterns in the ductus venosus and hypoplasia of the nasal bones.

子宫动脉血流波形的纵向变异与出生体重

OBJECTIVE: To investigate the relationship between the timing of disappearance of high-resistance uterine artery waveforms between the first and second trimester of pregnancy and birth weight. METHODS: Uterine artery Doppler recordings were obtained in a cohort of singleton pregnancies at 11-14 weeks of gestation and subsequently at 18-23 weeks. At each examination, the presence or absence of an early diastolic notch was recorded for each side. An abnormal pattern of blood flow was defined as the presence of bilateral notches. Cases complicated by preeclampsia or preterm delivery were excluded. RESULTS: Four hundred eleven pregnancies showed absent or unilateral uterine artery notches at the 11-14-week scan (group 1). All these cases maintained a low-resistance uterine blood flow pattern at the second-trimester scan. Of the 251 pregnancies with bilateral notches at the 11-14-week scan, 222 subsequently displayed a low-resistance blood flow at 18-23 weeks (group 2) whereas only 29 maintained bilateral notches (group 3). The mean birth weight was higher in group 1 (3,452 g) than in groups 2 (3,310 g) and 3 (3,224 g). This difference was confirmed after adjusting for confounding variables. Small-for-gestational-age fetuses were more common in groups 2 (14.9%) and 3 (14%) compared with group 1 (6.8%, P < .001). During the study period, severe preterm preeclampsia was observed in 6 cases only. CONCLUSION: The longitudinal variation in uterine artery blood flow pattern has a statistically significant correlation with birth weight, likely reflecting the timing and degree of trophoblastic invasion of the maternal vessels.

在挑选的和非挑选的人群中妊娠早期时的颈部半透明厚度、鼻骨及21-三体的关系

Objective: The purpose of this study was to assess the role of fetal nasal bones evaluation in first- trimester screening for trisomy 21 in selected and unselected pregnancies. Study design: Visualization of the nasal bones was attempted in women attending for routine nuchal translucency screening (unselected population, n = 7116, 12 cases of trisomy 21), aswell as in high risk pregnancies referred to our tertiary care center (selected population, n = 510, 23 cases of trisomy 21). Results: The sensitivity, specificity, positive and negative predictive value of absent nasal bones for trisomy 21 were 16.7% , 97.3% , 1.1% , 99.8% and 47.6% , 95.3% , 33.3% , 97.4% in the unselected and selected population, respectively. At logistic regression analysis including nuchal translucency and nasal bones findings, the latter resulted to be an independent predictor of trisomy 21 in the selected but not in the unselected population. Conclusion: First- trimester nasal bones assessment for trisomy 21 screening has a very different performance in selected and unselected pregnancies.

产次对妊娠早期血管内滋养层细胞浸润的影响

Objective: To assess the effect of parity on endovascular trophoblastic invasion in early pregnancy. Design: Observational study. Setting: Teaching hospital. Patient(s): Healthy women at 10-14 weeks of gestation. Intervention(s): Surgical termination of pregnancy for nonmedical reasons. Main Outcome Measure(s): Products of conception were blindly examined histologically with regard to the extent of decidual endovascular trophoblast invasion. Result(s): Samples were obtained from 20 nulliparous and 10 parous women. The presence of normal intradecidual endovascular trophoblast invasion was identified with a similar frequency in both groups (P=.28). However, the proportion of decidual vessels with endovascular trophoblast invasion was significantly higher in parous women (60% ) compared with nulliparous women (32% , P < .001). Conclusion(s): Endovascular trophoblast invasion in early pregnancy is more extensive in parous women who already had an uncomplicated pregnancy than in nulliparous women.

Noninvasive Prenatal Testing Test Versus Chorionic Villus Sampling,Where Are We Now?

Introduction The discovery of cell-free fetal DNA(cff-DNA),also known as noninvasive prenatal testing(NIPT),by Lo et al.in 1997,1 has significantly changed the screening for common chromosomal abnormalities.Its widespread acceptance globally underscores its impact.NIPT analyzes fetal DNA originating from the apoptosis of the outer cytotrophoblast,the fetal hematopoietic system,and lysis of other fetal cells.The DNA fraction increases from 10%to 15%between 10 and 20 gestational weeks.Rapid cff-DNA clearance occurs in maternal circulation,spanning from 4 minutes to 2 weeks postpartum.

Tuberous Sclerosis Complex Secondary to the Presence of Fetal Cardiac Rhabdomyoma:A Case Report and Literature Review

Fetal cardiac rhabdomyoma is associated with tuberous sclerosis complex(TSC)which is an autosomal dominant hereditary neurocutaneous disease with an incidence of approximately 1 in 5000 to 10000 live birth.It is caused by mutations in the TSC1 or TSC2 gene,de novo mutations accounting for approximately 80%of TSC cases,which can involve multiple organs and systems such as the heart,brain,kidney,lung,skin,and so on.Cardiac rhabdomyoma is the most common fetal heart tumor,accounting for about 60%of cases.It is closely related to TSC and may be the only manifestation of TSC which occurs during pregnancy.This study retrospectively analyzed the clinical data of a neonate with TSC diagnosed with fetal cardiac rhabdomyomas and confirmed by amniocentesis prenatal diagnosis as gene testing TSC1 gene positively.The parents had no such mutation.However,due to the influence of the sudden coronavirus disease 2019(COVID-19)epidemic,the TSC genetic test report was not obtained until 38 weeks of pregnancy.Multiple hypo-pigmented spots(diameter>5 mm)were found immediately after birth.The characteristic cardiac feature of TSC is a rhabdomyoma and the diagnosis of TSC is based upon genetic testing and multiple ultrasound examinations or magnetic resonance imaging.Most patients with TSC have epilepsy,and one-half or more have cognitive deficits and learning disabilities.So rigorous follow-up will continue for the case we reported.

An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome:A Case Report and Review of Literature

Bartter syndrome is a group of autosomal recessive renal tubular disorders;it has two types of presentation:antenatal and classic.The antenatal type presents as severe unexplained polyhydramnios in the second trimester.This is due to fetal urinary losses of sodium,chloride,and potassium,leading to fetal polyuria.The classic type presents in the late neonatal or infancy stage,with dehydration,dyselectrolytemia,failure to thrive,and nephrocalcinosis.Antenatal scans are normal in such cases.Type I and II Bartter syndrome presents in the antenatal period,whereas type IV has a classic presentation.We describe an unusual case of type IVa Bartter syndrome presenting in the antenatal period,with severe polyhydramnios.The initial diagnosis was made based on amniotic fluid chloride levels and later confirmed by performing a genetic test.Genetic testing is important for confirming diagnosis and prognostication regarding the condition.

Outcome of 1355 consecutive transabdominal chorionic villus samplings in 1351 patients

Background The true risk of choronic villus sampling(CVS)is poorly defined.The objective of this study was to review the clinical outcome of transabdominal CVS performed in a university teaching unit,with an emphasis on the complication rate.Methods A comprehensive audit database was maintained for 1351 pregnant women,including 17 sets ot twin pregnancies,who had a CVS.Details and outcome of all CVSs made in the unit between May 1996 and May 2004 were reviewed.All CVSs were performed by one of 5 operators using the identical techniques.Results All procedures were performed transabdominally.A total of 1355 CVSs were performed because there were 4 dichorionic twin pregnancies which required 2 punctures.The mean gestation at CVS was(11.8+0.7)weeks,and 97.3%of the procedures were performed between 11 and 13 completed weeks.The majority(96.2%)required only 1 puncture to achieve correct needle placement.The procedure failed to obtain an adequate sample in 4 subjects(0.30%).A total of 1351 chromosomal studies were requested and there was 1 case(0.07%)of culture failure.The results of chromosomal studies were available within 14 days in 36.7%of the cases and within 21 days in 94.0%.Overall,77 chromosomal abnormalities(5.7%)and 5 cases of thalassemia major were detected.Pregnancy outcome was unknown in only 13 singleton subjects(0.96%).In the remaining 1355 fetuses,there were 76 pregnancy terminations(5.56%),10 fetal losses with obvious obstetric causes(0.73%),and 21 potentially procedure-related fetal losses(1.54%).In the last group,the majority had one or more co-existing obstetric complications.The background fetal loss rate for pregnancies at similar gestational age in the unit was about 0.8%.Therefore,the procedure-related fetal loss rate was estimated to be at the maximum of 0.74%.Conclusions In experienced hands,first trimester transabdominal CVS is an accurate and safe invasive prenatal diagnostic procedure.It should be one of the treatment options available to pregnant women who require prenatal genetic diagnosis.

Trends in maternal body mass index in Northern Ireland:a cross-sectional and longitudinal study

Objectives Explore(1)associations between maternal body mass index(BMI),demographic and clinical characteristics,(2)longitudinal trends in BMI,(3)geographical distributions in prevalence of maternal overweight and obesity.Design Retrospective population-based study.Setting Linked,anonymised,routinely collected healthcare data and official statistics from Northern Ireland.Participants All pregnancies in Northern Ireland(2011-2017)with BMI measured at≤16 weeks gestation.Methods Analysis of variance andχ^(2)tests were used to explore associations.Multiple linear regression was used to explore longitudinal trends and spatial visualisation illustrated geographical distribution.Main outcomes are prevalence of overweight(BMI≥25 kg/m^(2))and obesity(BMI≥30 kg/m^(2)).Results 152961 singleton and 2362 multiple pregnancies were included.A high prevalence of maternal overweight and obesity in Northern Ireland is apparent(singleton:52.4%;multiple:48.3%)and is increasing.Obesity was positively associated with older age,larger numbers of previous pregnancies and unplanned pregnancy(p<0.001).BMI category was also positively associated with unemployment(35%in obese class III vs 22%in normal BMI category)(p<0.001).Higher BMI categories were associated with increased rate of comorbidities,including hypertension(normal BMI:1.8%vs obese III:12.4%),diabetes mellitus(normal BMI:0.04%vs obese III:1.29%)and mental ill-health(normal BMI:5.0%vs obese III:11.8%)(p<0.001).Prevalence of maternal obesity varied with deprivation(most deprived:22.8%vs least deprived:15.7%)(p<0.001).Low BMI was associated with age<20 years,nulliparity,unemployment and mental ill-health(p<0.001).Conclusions The prevalence of maternal BMI>25 kg/m^(2)is increasing over time in Northern Ireland.Women are entering pregnancy with additional comorbidities likely to impact their life course beyond pregnancy.This highlights the need for prioritisation of preconception and inter-pregnancy support for management of weight and chronic conditions.

Predicting Perinatal Outcomes in Fetuses with Congenital Diaphragmatic Hernia Using Ultrasound and Magnetic Resonance Imaging

Congenital diaphragmatic hernia is a congenital fetal disease,which mainly causes pulmonary hypoplasia and pulmonary hypertension.Effective early prenatal diagnosis can detect and predict the prognosis of congenital diaphragmatic hernia in infants,thus provide a reference for prenatal counseling,early intervention,and potential choices for the child’s family.Ultrasound and magnetic resonance imaging are the most commonly used methods for non-invasive examination of the fetus.This paper discusses evaluation parameters based on these two imaging modalities.